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Single allele AND Maternal riboflavin deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 17, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000191989.1

Allele description [Variation Report for Single allele]

Gene:
SLC52A1:solute carrier family 52 member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.2
Other names:
Deletion of exons 2 and 3, amino acids 44-379
HGVS:

    Condition(s)

    Name:
    Maternal riboflavin deficiency
    Identifiers:
    MONDO: MONDO:0014013; MedGen: C4750953; Orphanet: 411712

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000246252GeneReviews
    no assertion criteria provided
    		Pathogenic
    (Mar 17, 2015)     		germlineliterature only

    PubMed (1)
    [See all records that cite this PMID]

    Citation Link

    Description

    Deletion determined by RT-PCR

    SCV000246252

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.

    Ho G, Yonezawa A, Masuda S, Inui K, Sim KG, Carpenter K, Olsen RK, Mitchell JJ, Rhead WJ, Peters G, Christodoulou J.

    Hum Mutat. 2011 Jan;32(1):E1976-84. doi: 10.1002/humu.21399.

    PubMed [citation]
    PMID:
    21089064

    Details of each submission

    From GeneReviews, SCV000246252.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Apr 23, 2022